ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.-28C>T (rs764917503)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000169848 SCV000604976 uncertain significance not specified 2017-03-27 criteria provided, single submitter clinical testing
GeneDx RCV000656955 SCV000222171 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing This variant is denoted PTEN c.-28C>T, and describes a nucleotide substitution 28 base pairs upstream of the ATG translational start site in the 5' untranslated region (UTR). The surrounding sequence, with the base that is substituted in brackets, is CCTC[C/T]TTTTTC. This variant does not appear to affect the start codon or the Kozak translational consensus sequence. PTEN c.-28C>T has not, to our knowledge, been published in the literature as pathogenic or benign. Variants within the PTEN promoter have been observed in individuals with features of Cowden syndrome (Zhou 2003). While the c.-28C>T variant is outside of the promoter region, it is possible that it may still have an effect on the transcription of the gene or on the resultant protein. This variant was not observed at a significant allele frequency in large population cohorts (Lek 2016). The cytosine (C) nucleotide that is altered is conserved through mammals. Based on currently available evidence, it is unclear whether PTEN c.-28C>T is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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